Audiological characteristics in mucopolysaccharidosis: a systematic literature review

Chimelo, Flávia Teixeira; Silva, Liliane Aparecida Fagundes; Kim, Chong; Matas, Carla Gentile

doi:10.1590/1982-0216/201921516218

Cited by 3 publications

(1 citation statement)

References 16 publications

(46 reference statements)

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“…Because of the high frequency of hearing loss, its early onset, and progressive nature, auditory tests should be performed regularly in MPS I patients. These tests consist of audiometry, including bone conductive tests [45], and comprehensive evaluations of the involvement of different parts of the ear [46,47] (Table 3). Assessment of auditory function can be complicated by the age of the patient and/or cognitive function and/or because of the presence of ventilation tubes inserted in the tympanic membrane.…”

Section: Diagnostics For Auditory Manifestationsmentioning

confidence: 99%

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Hampe

Eisengart

Lund

et al. 2020

Cells

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Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in organs and tissues. If untreated, patients with the severe phenotype die within the first decade of life. Early diagnosis is crucial to prevent the development of fatal disease manifestations, prominently cardiac and respiratory disease, as well as cognitive impairment. However, the initial symptoms are nonspecific and impede early diagnosis. This review discusses common phenotypic manifestations in the order in which they develop. Similarities and differences in the three animal models for MPS I are highlighted. Earliest symptoms, which present during the first 6 months of life, include hernias, coarse facial features, recurrent rhinitis and/or upper airway obstructions in the absence of infection, and thoracolumbar kyphosis. During the next 6 months, loss of hearing, corneal clouding, and further musculoskeletal dysplasias develop. Finally, late manifestations including lower airway obstructions and cognitive decline emerge. Cardiac symptoms are common in MPS I and can develop in infancy. The underlying pathogenesis is in the intra- and extracellular accumulation of partially degraded GAGs and infiltration of cells with enlarged lysosomes causing tissue expansion and bone deformities. These interfere with the proper arrangement of collagen fibrils, disrupt nerve fibers, and cause devastating secondary pathophysiological cascades including inflammation, oxidative stress, and other disruptions to intracellular and extracellular homeostasis. A greater understanding of the natural history of MPS I will allow early diagnosis and timely management of the disease facilitating better treatment outcomes.

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Section: Diagnostics For Auditory Manifestationsmentioning

confidence: 99%